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KH
MCID: KPS002
MIFTS: 43

Kaposiform Hemangioendothelioma (KH)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Kaposiform Hemangioendothelioma

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MalaCards integrated aliases for Kaposiform Hemangioendothelioma:

Name: Kaposiform Hemangioendothelioma 53 59 6 72
Congenital Cutaneous Multifocal Kaposiform Hemangioendothelioma 53
Kaposiform Hemangio-Endothelioma 53
Khe 53
Kh 53

Characteristics:

Orphanet epidemiological data:

59
kaposiform hemangioendothelioma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C537007
ICD10 via Orphanet 34 D18.0
UMLS via Orphanet 73 C1367420
Orphanet 59 ORPHA2122
UMLS 72 C1367420
Sources

Summaries for Kaposiform Hemangioendothelioma

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2122DefinitionA very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.Visit the Orphanet disease page for more resources.

MalaCards based summary : Kaposiform Hemangioendothelioma, also known as congenital cutaneous multifocal kaposiform hemangioendothelioma, is related to hemangioendothelioma and capillary hemangioma. An important gene associated with Kaposiform Hemangioendothelioma is GNA14 (G Protein Subunit Alpha 14), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs Tacrolimus and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include endothelial, skin and bone, and related phenotypes are cardiovascular system and cellular

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Related Diseases for Kaposiform Hemangioendothelioma

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Diseases related to Kaposiform Hemangioendothelioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 hemangioendothelioma 30.9 PECAM1 KDR FLT4 FLI1
2 capillary hemangioma 30.9 PECAM1 KDR
3 lymphatic malformations 30.8 PROX1 FLT4
4 lymphangioma 30.7 PROX1 KDR FLT4
5 hemangioma 29.7 PROX1 PECAM1 KDR FLT4 CD34
6 renal cell carcinoma, nonpapillary 29.1 MTOR KDR FLT4
7 vascular cancer 28.3 VWF PROX1 KDR FLT4 FLI1 CD34
8 hemangioma-thrombocytopenia syndrome 11.9
9 angioma, tufted 11.9
10 thrombocytopenia 10.8
11 kaposi sarcoma 10.8
12 rare vascular tumor 10.8
13 lymphangiomatosis 10.7
14 fragile x syndrome 10.5
15 rare lymphatic malformation 10.5
16 rare tumor 10.4
17 disseminated intravascular coagulation 10.4
18 spindle cell hemangioma 10.4
19 intestinal obstruction 10.4
20 pyogenic granuloma 10.4
21 lymphedema 10.4
22 leukemia 10.4
23 lymphoma 10.3
24 sarcoma 10.3
25 respiratory failure 10.3
26 spindle cell sarcoma 10.3
27 hemolytic anemia 10.3
28 congenital hemangioma 10.3
29 skin hemangioma 10.3 PROX1 KDR
30 coronary heart disease 1 10.2
31 hennekam syndrome 10.2 PROX1 FLT4
32 hobnail hemangioma 10.2 FLT4 CD34
33 hemangioma, capillary infantile 10.2 KDR FLT4
34 polykaryocytosis inducer 10.2
35 autoimmune disease 10.1
36 intussusception 10.1
37 laryngomalacia 10.1
38 neurofibromatosis, type iv, of riccardi 10.1
39 rheumatoid arthritis 10.1
40 ascites, chylous 10.1
41 hemangiopericytoma, malignant 10.1
42 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
43 yemenite deaf-blind hypopigmentation syndrome 10.1
44 human herpesvirus 8 10.1
45 hydrops, lactic acidosis, and sideroblastic anemia 10.1
46 hereditary lymphedema 10.1
47 scoliosis 10.1
48 mucositis 10.1
49 suppression amblyopia 10.1
50 amblyopia 10.1

Graphical network of the top 20 diseases related to Kaposiform Hemangioendothelioma:



Diseases related to Kaposiform Hemangioendothelioma
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Symptoms & Phenotypes for Kaposiform Hemangioendothelioma

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MGI Mouse Phenotypes related to Kaposiform Hemangioendothelioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 FLI1 FLT4 KDR MTOR PECAM1 PROX1
2 cellular MP:0005384 9.91 CD34 FLI1 KDR MTOR PECAM1 PROX1
3 hematopoietic system MP:0005397 9.87 CD34 FLI1 KDR MTOR PECAM1 PROX1
4 homeostasis/metabolism MP:0005376 9.8 CD34 FLT4 KDR MTOR PECAM1 PROX1
5 immune system MP:0005387 9.76 CD34 FLI1 FLT4 KDR MTOR PECAM1
6 liver/biliary system MP:0005370 9.35 FLI1 FLT4 KDR PECAM1 PROX1
7 muscle MP:0005369 9.1 FLI1 FLT4 KDR MTOR PECAM1 PROX1
Sources

Drugs & Therapeutics for Kaposiform Hemangioendothelioma

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Drugs for Kaposiform Hemangioendothelioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
2 Immunologic Factors Phase 4
3 Immunosuppressive Agents Phase 4
4 Calcineurin Inhibitors Phase 4
5
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
6
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
7
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
8
Propranolol Approved, Investigational Phase 2 525-66-6 4946
9
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
12
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
13
tannic acid Approved Phase 2 1401-55-4
14
Vincristine Approved, Investigational Phase 2 57-22-7, 2068-78-2 5978
15
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
16
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
17 Neurotransmitter Agents Phase 2
18 Gastrointestinal Agents Phase 2
19 Antihypertensive Agents Phase 2
20 Antiemetics Phase 2
21 Neuroprotective Agents Phase 2
22 Methylprednisolone Acetate Phase 2
23 Antifungal Agents Phase 2
24 Anti-Inflammatory Agents Phase 2
25 Adrenergic beta-Antagonists Phase 2
26 Anti-Infective Agents Phase 2
27 glucocorticoids Phase 2
28 Hormones Phase 2
29 Anti-Bacterial Agents Phase 2
30 Peripheral Nervous System Agents Phase 2
31 Antibiotics, Antitubercular Phase 2
32 Adrenergic Antagonists Phase 2
33 Protective Agents Phase 2
34 Antineoplastic Agents, Hormonal Phase 2
35 Anti-Arrhythmia Agents Phase 2
36 Hormone Antagonists Phase 2
37 Adrenergic Agents Phase 2
38 Vasodilator Agents Phase 2
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
40 Prednisolone acetate Phase 2
41 Autonomic Agents Phase 2
42 Antineoplastic Agents, Phytogenic Phase 2
43 Tubulin Modulators Phase 2
44 Antimitotic Agents Phase 2
45 Mitogens
46 Endothelial Growth Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tacrolimus for the Treatment of Superficial Kaposiform Hemangioendothelioma and Tufted Angioma: a Single Arm Prospective Study Not yet recruiting NCT04056962 Phase 4 Tacrolimus ointment
2 Sirolimus Plus Propranolol Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma With Kasabach-Merritt Syndrome Recruiting NCT03188068 Phase 2 Sirolimus;Prednisolone;Propranolol
3 A Randomized Phase 2 Study of Vincristine Versus Sirolimus to Treat High Risk Kaposiform Hemangioendothelioma (KHE). Recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
4 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180

Search NIH Clinical Center for Kaposiform Hemangioendothelioma

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Genetic Tests for Kaposiform Hemangioendothelioma

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Anatomical Context for Kaposiform Hemangioendothelioma

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MalaCards organs/tissues related to Kaposiform Hemangioendothelioma:

41
Endothelial, Skin, Bone, Spleen, Tongue, Lymph Node, Thymus
Sources

Publications for Kaposiform Hemangioendothelioma

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Articles related to Kaposiform Hemangioendothelioma:

(show top 50) (show all 270)
# Title Authors PMID Year
1
Ultrasonography and magnetic resonance imaging features of kaposiform hemangioendothelioma and tufted angioma. 38
31373042 2019
2
Tacrolimus ointment for the treatment of superficial kaposiform hemangioendothelioma and tufted angioma. 38
31373046 2019
3
Low dose sirolimus treatment for refractory tufted angioma and congenital kaposiform hemangioendothelioma, both with Kasabach-Merritt phenomenon. 38
31087627 2019
4
A not so harmless mass: Kaposiform hemangioendothelioma complicated by a Kasabach-Merritt phenomenon. 38
31353149 2019
5
Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences. 38
31277673 2019
6
A report on Kaposiform hemangioendothelioma in the cervical spine. 38
30896568 2019
7
Activation of Hedgehog Signaling in Aggressive Hepatic Hemangioma in Newborns and Infants. 38
31092427 2019
8
Pediatric facial kaposiform hemangioendothelioma: a case report and review of the literature. 38
31044058 2019
9
[Our experience with sirolimus for the treatment of complicated vascular anomalies]. 38
30714698 2019
10
Kaposiform Hemangioendothelioma of the GI Tract: An Exception to Occam's Principle in an Adult with SBO. 38
31093393 2019
11
Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon in an infant: Successful treatment with prednisolone, vincristine, and addition of sirolimus. 38
30070028 2018
12
Vascular Anomalies. 38
30396415 2018
13
Kaposiform hemangioendothelioma without cutaneous involvement. 38
30293120 2018
14
Proliferative Cells From Kaposiform Lymphangiomatosis Lesions Resemble Mesenchyme Stem Cell-like Pericytes Defective in Vessel Formation. 38
30256265 2018
15
Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review. 38
30466240 2018
16
Diagnosis of congenital and acquired focal lesions in the neck, abdomen, and pelvis with contrast-enhanced ultrasound: a pictorial essay. 38
29971555 2018
17
Comparison of Corticosteroid and Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma: A Systematic Review and Meta-Analysis. 38
30372769 2018
18
Development of Kasabach-Merritt phenomenon following vaccination: More than a coincidence? 38
30118141 2018
19
Atypically presenting kaposiform hemangioendothelioma of the knee: ultrasound findings. 38
29637402 2018
20
First Intracardiac Kaposiform Hemangioendothelioma in an Infant Resolved With Sirolimus: A Case Report. 38
30067556 2018
21
Frequent GNAQ and GNA14 Mutations in Hepatic Small Vessel Neoplasm. 38
29975248 2018
22
Sirolimus as initial therapy for kaposiform hemangioendothelioma and tufted angioma. 38
29999213 2018
23
Kaposiform hemangioendothelioma in children: a benign vascular tumor with multiple treatment options. 38
30054848 2018
24
Regional Differences in Clinical Features of Kaposiform Hemangioendothelioma of the Intestinal Tract. 38
29554025 2018
25
Sirolimus Treatment of an Infant With Intrathoracic Kaposiform Hemangioendothelioma Complicated by Life-threatening Pleural and Pericardial Effusions. 38
30044355 2018
26
Clinical and imaging features of Kaposiform Hemangioendothelioma. 38
29536769 2018
27
Management of Refractory Pediatric Kaposiform Hemangioendothelioma With Sirolimus and Aspirin. 38
29240034 2018
28
Vascular Anomalies: From a Clinicohistologic to a Genetic Framework. 38
29697621 2018
29
A Case Report of 2 Sirolimus-Related Deaths Among Infants With Kaposiform Hemangioendotheliomas. 38
29610165 2018
30
Vascular Tumors in Infants: Case Report and Review of Clinical, Histopathologic, and Immunohistochemical Characteristics of Infantile Hemangioma, Pyogenic Granuloma, Noninvoluting Congenital Hemangioma, Tufted Angioma, and Kaposiform Hemangioendothelioma. 38
29561329 2018
31
Pneumocystis Jirovecii Pneumonia During Sirolimus Therapy for Kaposiform Hemangioendothelioma. 38
29610164 2018
32
Successful Management of Kaposiform Hemangioendothelioma with Long-Term Sirolimus Treatment: a Case Report and Review of the Literature. 38
30002799 2018
33
Association between extremity kaposiform hemangioendothelioma and lymphedema. 38
29266383 2018
34
Musculoskeletal complication in kaposiform hemangioendothelioma without Kasabach-Merritt phenomenon: clinical characteristics and management. 38
30233248 2018
35
Impact of sirolimus treatment for refractory kaposiform hemangioendothelioma with exacerbation of the disease 10 years after initial diagnosis. 38
29872523 2018
36
Episode of Kasabach-Merritt phenomenon following Japanese encephalitis vaccination: Case report. 38
29050802 2017
37
[Acute complications of vascular anomalies in childhood]. 38
28815311 2017
38
Restricted Range of Motion and a Cold Upper Extremity in a Two-Year-Old Boy: Kaposiform Hemangioendothelioma of the Bone and the Brachial Plexus: A Case Report. 38
29286963 2017
39
Intestinal obstruction due to kaposiform hemangioendothelioma in a 1-month-old infant: A case report. 38
28906349 2017
40
Kaposiform hemangioendothelioma in an adult with rheumatoid arthritis. 38
29154372 2017
41
[Refractory kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: clinical analysis of 10 cases]. 38
28881518 2017
42
Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 1: classification, sonographic approach and vascular tumors. 38
28779195 2017
43
Sirolimus for the treatment of progressive kaposiform hemangioendothelioma: A multicenter retrospective study. 38
28486787 2017
44
Four cases of pediatric deep-seated/subcutaneous pyogenic granuloma: Review of literature and differential diagnosis. 38
28233342 2017
45
Histopathology of Spindle Cell Vascular Tumors. 38
28477885 2017
46
Kaposiform Hemangioendothelioma Presenting as Hydrops Fetalis. 38
28318049 2017
47
Successful Management of Pancreatic Kaposiform Hemangioendothelioma With Sirolimus: Case Report and Literature Review. 38
28426496 2017
48
Identical Presentation of Scapular Osteolysis in Two Patients with Thoracic Kaposiform Hemangioendothelioma. 38
28382716 2017
49
[One case report of nasal kaposiform hemangioendothelioma in adult]. 38
29871314 2017
50
Multifocal Kaposiform Hemangioendothelioma Causing Massive Fetal Chylous Ascites. 38
27983885 2017
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Variations for Kaposiform Hemangioendothelioma

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ClinVar genetic disease variations for Kaposiform Hemangioendothelioma:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNA14 NM_004297.4(GNA14): c.614A> T (p.Gln205Leu) single nucleotide variant Likely pathogenic rs1554685903 9:80043932-80043932 9:77429016-77429016
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Expression for Kaposiform Hemangioendothelioma

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Search GEO for disease gene expression data for Kaposiform Hemangioendothelioma.
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Pathways for Kaposiform Hemangioendothelioma

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Pathways related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 64
Show member pathways
 12.63 MTOR KDR GNA14 FLT4
2
p70S6K Signaling 64
Show member pathways
 12.59 MTOR KDR GNA14 FLT4
3
PI3K-Akt signaling pathway 37
Show member pathways
 12.39 VWF MTOR KDR FLT4
4
NF-kappaB Signaling 4
12.19 PECAM1 FLI1 CD34
5
mTOR signaling pathway (KEGG) 37
Show member pathways
 12.12 MTOR KDR FLT4
6
Apoptosis Pathway 71
Show member pathways
 11.92 MTOR KDR FLT4
7
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 11.73 MTOR KDR FLT4
8
AKT Signaling Pathway 67
11.49 MTOR KDR FLT4
9
ECM-receptor interaction 37
Show member pathways
 11.32 VWF PECAM1 KDR
10
Vemurafenib Pathway, Pharmacodynamics 61
11.09 KDR FLT4
11
Angiogenesis (CST) 4
10.97 VWF PROX1 PECAM1 KDR FLT4
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GO Terms for Kaposiform Hemangioendothelioma

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Biological processes related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.7 PECAM1 KDR FLT4
2 extracellular matrix organization GO:0030198 9.67 VWF PECAM1 KDR
3 positive regulation of protein phosphorylation GO:0001934 9.65 MTOR KDR FLT4
4 protein autophosphorylation GO:0046777 9.63 MTOR KDR FLT4
5 hemostasis GO:0007599 9.54 VWF FLI1
6 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.51 KDR FLT4
7 vascular endothelial growth factor signaling pathway GO:0038084 9.43 KDR FLT4
8 lymphangiogenesis GO:0001946 9.4 PROX1 FLT4
9 lymph vessel development GO:0001945 9.37 PROX1 FLT4
10 positive regulation of endothelial cell migration GO:0010595 9.33 PROX1 KDR FLT4
11 positive regulation of vasculogenesis GO:2001214 9.32 KDR CD34
12 endothelium development GO:0003158 9.26 KDR CD34
13 glomerular endothelium development GO:0072011 8.96 PECAM1 CD34
14 positive regulation of endothelial cell proliferation GO:0001938 8.92 PROX1 MTOR KDR FLT4

Molecular functions related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.16 KDR FLT4
2 growth factor binding GO:0019838 8.96 KDR FLT4
3 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 KDR FLT4
Sources

Sources for Kaposiform Hemangioendothelioma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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